Varaico: Literature-Extracted Genetic Variants

Gene:TRNT1
Variant:p.K317delins
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TRNT1

NM_182916.3:p.K317delins

Associated Papers

Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review.

Chen X et al.

Frontiers in Pediatrics, 2023

A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome.

Kisla Ekinci RM et al.

Pediatric Allergy, Immunology, and Pulmonology, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."